Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome X:54470182 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1123441 ; HGMD-PUBLIC CM020698

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

X:g.54470182G>A
ENST00000375135.3:c.935C>T
ENSP00000364277.3:p.Pro312Leu

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays